Article
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.
Neurology - 13 Jul 2004
Borgatti R, Zucca C, Cavallini A, Ferrario M, Panzeri C, Castaldo P, Soldovieri M V, Baschirotto C, Bresolin N, Dalla Bernardina B, Taglialatela M, Bassi M T
Abstract excerpt
BACKGROUND: Benign familial neonatal convulsion (BFNC) is a rare autosomal dominant disorder caused by mutations in two genes, KCNQ2 and KCNQ3, encoding for potassium channel subunits underlying the M-current. This current limits neuronal hyperexcitability by causing spike-frequency adaptation. METHODS: The authors describe a BFNC family with four affected members: two of them exhibit BFNC only while the other...
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